Description of Collaborative Activity: |
ClinGen has partnered with the Centers for Disease Control and Prevention's Genetic Testing Reference Materials Program (or GeT-RM)to develop a publicly available list of expert curated, clinically important genomic variants that provides a foundation for designing comprehensive validation studies and for creating in silico reference materials for clinical genomic test development and validation. In August 2021, ClinGen and GeT-RM published their results in the Journal of Molecular Diagnostics. To assemble the expert curated variant list, members from 36 of ClinGen’s Expert Panels were asked to nominate clinically important variants, including SNPs, CNVs, difficult-to-sequence regions, and complex rearrangements. 546 genomic variants in 84 genes were nominated, including 29 genes on the American College of Medical Genetics and Genomics Secondary Findings v3.0 List. The nominated variants relate to a wide range of diseases, including heritable cancers, inborn errors of metabolism, cardiomyopathy, diabetes, and immune disorders. ClinGen and GeT-RM will continue to solicit feedback from the community and update the list on a regular basis. |
